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2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]
BPGM (Bisphosphoglycerate Mutase) is a Protein Coding gene. Diseases associated with BPGM include Erythrocytosis, Familial, 8 and Erythrocytosis, Familial, 4. Among its related pathways are Glycine, serine and threonine metabolism and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include intramolecular transferase activity, phosphotransferases and bisphosphoglycerate 2-phosphatase activity. An important paralog of this gene is PGAM1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0004082 | bisphosphoglycerate mutase activity | IEA | -- |
GO:0004619 | phosphoglycerate mutase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 28514442 |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
GO:0070062 | extracellular exosome | HDA | 23533145 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glucose metabolism |
Glycolysis and gluconeogenesis (short map)
.58
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2 | Metabolism |
.40
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3 | Glycine, serine and threonine metabolism | ||
4 | Glycosaminoglycan metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | NAS | 2542247 |
GO:0006096 | glycolytic process | IEA | -- |
GO:0007585 | respiratory gaseous exchange | TAS | 2542247 |
GO:0048821 | erythrocyte development | IEA | -- |
GO:0061621 | canonical glycolysis | TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
2,3-Diphosphoglyceric acid |
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14438-19-8 |
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2-Phosphoglyceric acid |
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2553-59-5 |
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Glyceric acid 1,3-biphosphate |
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38168-82-0 |
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ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | · | 5d | ^ | 6a | · | 6b | ^ | 7 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BPGM 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
BPGM 30 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | BPGM 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | BPGM 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bpgm 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bpgm 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | BPGM 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BPGM 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BPGM 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bpgm 30 |
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Str.1545 30 |
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African clawed frog (Xenopus laevis) |
Amphibia | Xl.14486 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | bpgm 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG7059 31 32 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GPM1 31 |
|
OneToMany | |
GPM3 33 |
|
|
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
973177 | Pathogenic: Deficiency of bisphosphoglycerate mutase | 134,661,692(+) |
G/A NM_001724.5(BPGM):c.185G>A (p.Arg62Gln) |
MISSENSE | |
973178 | Pathogenic: Deficiency of bisphosphoglycerate mutase | 134,661,776(+) |
G/A NM_001724.5(BPGM):c.269G>A (p.Arg90His) |
MISSENSE | |
rs121964925 | Pathogenic: Deficiency of bisphosphoglycerate mutase. Erythrocytosis, familial, 8 (ECYT8) [MIM:222800] | 134,661,775(+) |
C/Tp.Arg90Cys NM_001724.5(BPGM):c.268C>T (p.Arg90Cys) |
MISSENSE | |
rs751972865 | Erythrocytosis, familial, 8 (ECYT8) [MIM:222800] |
p.Arg62Gln |
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rs786205092 | Pathogenic: Deficiency of bisphosphoglycerate mutase | 134,661,566(+) |
AC/A NM_001724.5(BPGM):c.61del (p.Arg21fs) |
FRAMESHIFT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3671n106 | CNV | deletion | 24896259 |
esv2142865 | CNV | deletion | 18987734 |
esv2541159 | CNV | deletion | 19546169 |
esv2735181 | CNV | deletion | 23290073 |
esv2761369 | CNV | loss | 21179565 |
esv2762705 | CNV | loss | 21179565 |
esv3182 | CNV | loss | 18987735 |
esv3542464 | CNV | deletion | 23714750 |
esv5725 | CNV | loss | 19470904 |
nsv1154035 | CNV | deletion | 26484159 |
nsv366336 | CNV | deletion | 16902084 |
nsv472556 | CNV | novel sequence insertion | 20440878 |
nsv5958 | CNV | insertion | 18451855 |
nsv957590 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
erythrocytosis, familial, 8 |
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erythrocytosis, familial, 4 |
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erythrocytosis, familial, 3 |
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hemolytic anemia |
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erythrocytosis, familial, 1 |
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